Lv1
50 积分 2023-01-05 加入
[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]
2天前
已完结
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
11天前
已关闭
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs
15天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
21天前
已完结
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
23天前
已完结
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients
24天前
已关闭
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients
24天前
已关闭
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
25天前
已完结
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
1个月前
已完结
Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases
1个月前
已完结
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